muscular hypotonia of the trunk Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. (Human Phenotype Ontology, HP_0008936)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008936
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Genes

53 genes associated with the muscular hypotonia of the trunk phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ADCY5 adenylate cyclase 5
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
AMPD2 adenosine monophosphate deaminase 2
ARX aristaless related homeobox
ASNS asparagine synthetase (glutamine-hydrolyzing)
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CHMP1A charged multivesicular body protein 1A
COG4 component of oligomeric golgi complex 4
COG6 component of oligomeric golgi complex 6
DARS aspartyl-tRNA synthetase
DCX doublecortin
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
EXOSC3 exosome component 3
FAM126A family with sequence similarity 126, member A
GCK glucokinase (hexokinase 4)
GFM1 G elongation factor, mitochondrial 1
GJC2 gap junction protein, gamma 2, 47kDa
GLYCTK glycerate kinase
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
IFIH1 interferon induced with helicase C domain 1
INS insulin
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KIAA2022 KIAA2022
KIF1A kinesin family member 1A
MECP2 methyl CpG binding protein 2
MRPS22 mitochondrial ribosomal protein S22
NALCN sodium leak channel, non selective
NECAP1 NECAP endocytosis associated 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCLN occludin
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PNPO pyridoxamine 5'-phosphate oxidase
PTS 6-pyruvoyltetrahydropterin synthase
RAB18 RAB18, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SOX10 SRY (sex determining region Y)-box 10
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TH tyrosine hydroxylase
TREX1 three prime repair exonuclease 1
TUBB3 tubulin, beta 3 class III
TUBB4A tubulin, beta 4A class IVa